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| Verfasst von: | Kuilenburg, André van [VerfasserIn]  |
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| | Dobritzsch, Doreen [VerfasserIn] |
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| | Meijer, Judith [VerfasserIn] |
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| | Meinsma, Rutger [VerfasserIn] |
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| | Benoist, Jean-François [VerfasserIn] |
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| | Assmann, Birgit [VerfasserIn] |
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| | Schubert-Bast, Susanne [VerfasserIn] |
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| | Hoffmann, Georg F. [VerfasserIn] |
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| | Duran, Marinus [VerfasserIn] |
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| | de Vries, Maaike C. [VerfasserIn] |
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| | Kurlemann, Gerd [VerfasserIn] |
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| | Eyskens, François J. M. [VerfasserIn] |
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| | Greed, Lawrence [VerfasserIn] |
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| | Sass, Jörn Oliver [VerfasserIn] |
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| | Schwab, K. Otfried [VerfasserIn] |
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| | Sewell, Adrian C. [VerfasserIn] |
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| | Walter, John [VerfasserIn] |
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| | Hahn, Andreas [VerfasserIn] |
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| | Zoetekouw, Lida [VerfasserIn] |
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| | Ribes, Antonia [VerfasserIn] |
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| | Lind, Suzanne [VerfasserIn] |
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| | Hennekam, Raoul C. M. [VerfasserIn] |
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| Titel: | Dihydropyrimidinase deficiency |
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| Titelzusatz: | phenotype, genotype and structural consequences in 17 patients |
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| Verf.angabe: | André B.P. van Kuilenburg, Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Jean-François Benoist, Birgit Assmann, Susanne Schubert, Georg F. Hoffmann, Marinus Duran, Maaike C. de Vries, Gerd Kurlemann, François J.M. Eyskens, Lawrence Greed, Jörn Oliver Sass, K. Otfried Schwab, Adrian C. Sewell, John Walter, Andreas Hahn, Lida Zoetekouw, Antonia Ribes, Suzanne Lind, Raoul C.M. Hennekam |
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| E-Jahr: | 2010 |
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| Jahr: | 1 April 2010 |
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| Umfang: | 10 S. |
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| Fussnoten: | Gesehen am 29.08.2023 |
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| Titel Quelle: | Enthalten in: Biochimica et biophysica acta / Molecular basis of disease |
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| Ort Quelle: | Amsterdam : Elsevier, 1990 |
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| Jahr Quelle: | 2010 |
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| Band/Heft Quelle: | 1802(2010), 7/8 vom: Juli/Aug., Seite 639-648 |
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| ISSN Quelle: | 1879-260X |
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| Abstract: | Dihydropyrimidinase (DHP) is the second enzyme of the pyrimidine degradation pathway and catalyses the ring opening of 5,6-dihydrouracil and 5,6-dihydrothymine. To date, only 11 individuals have been reported suffering from a complete DHP deficiency. Here, we report on the clinical, biochemical and molecular findings of 17 newly identified DHP deficient patients as well as the analysis of the mutations in a three-dimensional framework. |
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| DOI: | doi:10.1016/j.bbadis.2010.03.013 |
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| URL: | Bibliographic entry. University members only receive access to full-texts for open access or licensed publications.
Volltext: https://doi.org/10.1016/j.bbadis.2010.03.013 |
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| | Volltext: https://www.sciencedirect.com/science/article/pii/S0925443910000724 |
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| | DOI: https://doi.org/10.1016/j.bbadis.2010.03.013 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Crystal structure |
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| | Dihydropyrimidinase |
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| | Functional and structural protein analysis |
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| | Neurological and gastrointestinal abnormalities |
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| K10plus-PPN: | 1858176093 |
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| Verknüpfungen: | → Journal |
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Dihydropyrimidinase deficiency / Kuilenburg, André van [VerfasserIn]; 1 April 2010 (Online-Ressource)
